Primary care
Recommendation 1
Specialist referrals, psychological and hormone therapy
48 XXXY syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Non-inherited disorder characterized by the presence of 2 extra X chromosomes in males.
Common symptoms
Learning difficultiesintellectual disabilityhypotoniahypogonadismdelayed growthazoospermiaautisminfertilitypoor social skills and delayed language development.
When to suspect
Recommendation 1
A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray.
How to test
Recommendation 1
A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Testosterone-based hormone therapy
Further support
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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